KdVS Foundation awards Investigator Grant

For Immediate Release

May 31, 2023

Koolen-de Vries Syndrome Foundation Working with St. Jude Children’s Research Hospital Through Investigator Grant Program

WILMINGTON, N.C. – The Koolen-de Vries Syndrome (KdVS) Foundation is pleased to announce that it has awarded an Investigator Grant to Dr. Esmat Fathi in the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. Under the mentorship of Dr. Heather Mefford, Dr. Fathi will spend the next 12-18 months investigating molecular strategies to increase expression of KANSL1 – the causal gene linked to KdVS. Her project, titled “Developing Tools to rescue KANSL1 haploinsufficiency as a therapeutic strategy for Koolen-de Vries Syndrome,” will determine whether CRISPRa or SINEUPs technology can increase mRNA expression of KANSL1. Drs. Fathi and Mefford will be the first to investigate these molecular strategies in the context of KdVS with promising findings to be validated and potentially translated into in vivo models of KdVS.

“As a Foundation and as a parent with a child with KdVS, this research opportunity is incredibly exciting for us. Historically, research on KdVS has been largely devoted towards our understanding of the disease and this project marks one of the first therapeutic opportunities for our kids” says Ashley Fortney Point, President of the KdVS Foundation.

Last year, the Koolen-de Vries Syndrome Foundation launched its Investigator Grant Program, aimed at accelerating the development of therapeutics for the treatment of those living with KdVS. This grant program is particularly designed to support new investigators to the field of KdVS and to identify overlaps in pathology and potential curative approaches across rare diseases.

“Our lab has experience in these specific technologies in other rare diseases resulting in haploinsufficencies so we were eager to extend this work into the field of KdVS ” says Dr. Fathi. 

“We understand the importance of academics working in the field of rare disease” says Mefford “and more importantly, investigating therapeutic strategies that could be potentially translated into clinical populations in the future”.

“We recently learned that KANSL1 variants as well as 17q21.31 microdeletions are amongst the genes and copy number variants that are studied by the Simons Searchlight Foundation which focuses on autism. This has really garnered a lot of additional interest in our community and Simons Searchlight has been a wonderful resource to our research community” says Barbara Drake, a member of the KdVS Foundation Research Committee.

KdVS is a neurodevelopmental disorder caused by both microdeletions on chromosome 17 at q21.31 or mutation of the KANSL1 gene. Individuals diagnosed with KdVS may experience global developmental delays, cognitive deficits, impairments in motor function as well as a variety of musculoskeletal abnormalities, with emerging evidence of significant cardiac impairments. The prevalence is now estimated at 1 in 55,000 individuals.

The Koolen-de Vries Syndrome Foundation is dedicated to educating, increasing awareness and promoting research for the support and enrichment of individuals with KdVS and their families. In collaboration with their Medical Advisory Board, the Foundation works to provide the latest KdVS research, surveys, findings and medical advances.

If you would like to learn more about the Koolen-de Vries Syndrome Foundation, please contact Ashley Point at [email protected].